KCNJ6

KCNJ6
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2E4F, 3AGW, 3AT8, 3AT9, 3ATA, 3ATB, 3ATD, 3ATE, 3ATF, 3AUW, 3SYA, 3SYC, 3SYO, 3SYP, 3SYQ, 3VSQ, 4KFM
Identifiers
Aliases	KCNJ6 , BIR1, GIRK-2, GIRK2, KATP-2, KATP2, KCNJ7, KIR3.2, hiGIRK2, KPLBS, potassium voltage-gated channel subfamily J member 6, potassium inwardly rectifying channel subfamily J member 6
External IDs	OMIM: 600877; MGI: 104781; HomoloGene: 1688; GeneCards: KCNJ6; OMA:KCNJ6 - orthologs
Gene location (Human) Chr. Chromosome 21 (human) [1] Band 21q22.13 Start 37,607,373 bp [1] End 38,121,345 bp [1]
Gene location (Mouse) Chr. Chromosome 16 (mouse) [2] Band 16 C4|16 55.44 cM Start 94,549,495 bp [2] End 94,798,560 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pars reticulata pars compacta middle temporal gyrus Brodmann area 23 frontal pole postcentral gyrus Brodmann area 46 orbitofrontal cortex entorhinal cortex cerebellar vermis Top expressed in dentate gyrus of hippocampal formation granule cell lumbar subsegment of spinal cord primary visual cortex superior frontal gyrus pretectal area gastrula blastocyst CA3 field lumbar spinal ganglion supraoptic nucleus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function G-protein activated inward rectifier potassium channel activity protein binding inward rectifier potassium channel activity voltage-gated ion channel activity Cellular component integral component of membrane voltage-gated potassium channel complex plasma membrane Golgi apparatus membrane Biological process potassium ion transport regulation of ion transmembrane transport ion transport transport potassium ion import across plasma membrane Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3763 16522 Ensembl ENSG00000157542 ENSMUSG00000043301 UniProt P48051 P48542 RefSeq (mRNA) NM_002240 NM_001025584 NM_001025585 NM_001025590 NM_010606 RefSeq (protein) NP_002231 NP_001020755 NP_001020756 NP_001020761 NP_034736 Location (UCSC) Chr 21: 37.61 – 38.12 Mb Chr 16: 94.55 – 94.8 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

G protein-activated inward rectifier potassium channel 2 is a protein that in humans is encoded by the KCNJ6 gene. ^{[5] [6] [7]} Mutation in KCNJ6 gene has been proposed to be the cause of Keppen-Lubinsky Syndrome (KPLBS). ^[8]

Function

Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and may be involved in the regulation of insulin secretion by glucose. It associates with two other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex. ^[7]

Interactions

KCNJ6 has been shown to interact with KCNJ9 ^{[9] [10]} and DLG1. ^[11]

See also

• G protein-coupled inwardly-rectifying potassium channel
• Inward-rectifier potassium ion channel

References

1. GRCh38: Ensembl release 89: ENSG00000157542 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000043301 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Sakura H, Bond C, Warren-Perry M, Horsley S, Kearney L, Tucker S, et al. (August 1995). "Characterization and variation of a human inwardly-rectifying-K-channel gene (KCNJ6): a putative ATP-sensitive K-channel subunit". FEBS Letters. 367 (2): 193–197. Bibcode:1995FEBSL.367..193S. doi:10.1016/0014-5793(95)00498-X. PMID   7796919. S2CID   21441896.
6. Kubo Y, Adelman JP, Clapham DE, Jan LY, Karschin A, Kurachi Y, et al. (December 2005). "International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels". Pharmacological Reviews. 57 (4): 509–526. doi:10.1124/pr.57.4.11. PMID   16382105. S2CID   11588492.
7. "Entrez Gene: KCNJ6 potassium inwardly-rectifying channel, subfamily J, member 6".
8. Masotti A, Uva P, Davis-Keppen L, Basel-Vanagaite L, Cohen L, Pisaneschi E, et al. (2015-02-05). "Keppen-Lubinsky Syndrome Is Caused by Mutations in the Inwardly Rectifying K+ Channel Encoded by KCNJ6". American Journal of Human Genetics. 96 (2): 295–300. doi:10.1016/j.ajhg.2014.12.011. ISSN   0002-9297. PMC   4320262 . PMID   25620207.
9. Jelacic TM, Kennedy ME, Wickman K, Clapham DE (November 2000). "Functional and biochemical evidence for G-protein-gated inwardly rectifying K+ (GIRK) channels composed of GIRK2 and GIRK3". Journal of Biological Chemistry. 275 (46): 36211–36216. doi: 10.1074/jbc.M007087200 . PMID   10956667.
10. Lavine N, Ethier N, Oak JN, Pei L, Liu F, Trieu P, et al. (November 2002). "G protein-coupled receptors form stable complexes with inwardly rectifying potassium channels and adenylyl cyclase". Journal of Biological Chemistry. 277 (48): 46010–46019. doi: 10.1074/jbc.M205035200 . PMID   12297500.
11. Hibino H, Inanobe A, Tanemoto M, Fujita A, Doi K, Kubo T, et al. (January 2000). "Anchoring proteins confer G protein sensitivity to an inward-rectifier K(+) channel through the GK domain". The EMBO Journal. 19 (1): 78–83. doi:10.1093/emboj/19.1.78. PMC   1171779 . PMID   10619846.

Further reading

• Patil N, Cox DR, Bhat D, Faham M, Myers RM, Peterson AS (1995). "A potassium channel mutation in weaver mice implicates membrane excitability in granule cell differentiation". Nature Genetics. 11 (2): 126–129. doi:10.1038/ng1095-126. PMID   7550338. S2CID   23470275.
• Ferrer J, Nichols CG, Makhina EN, Salkoff L, Bernstein J, Gerhard D, et al. (1995). "Pancreatic islet cells express a family of inwardly rectifying K+ channel subunits which interact to form G-protein-activated channels". Journal of Biological Chemistry. 270 (44): 26086–26091. doi: 10.1074/jbc.270.44.26086 . PMID   7592809.
• Tsaur ML, Menzel S, Lai FP, Espinosa R, Concannon P, Spielman RS, et al. (1995). "Isolation of a cDNA clone encoding a KATP channel-like protein expressed in insulin-secreting cells, localization of the human gene to chromosome band 21q22.1, and linkage studies with NIDDM". Diabetes. 44 (5): 592–596. doi:10.2337/diabetes.44.5.592. PMID   7729621.
• Lesage F, Duprat F, Fink M, Guillemare E, Coppola T, Lazdunski M, et al. (1994). "Cloning provides evidence for a family of inward rectifier and G-protein coupled K+ channels in the brain". FEBS Letters. 353 (1): 37–42. Bibcode:1994FEBSL.353...37L. doi:10.1016/0014-5793(94)01007-2. PMID   7926018. S2CID   25180672.
• Liao YJ, Jan YN, Jan LY (1996). "Heteromultimerization of G-protein-gated inwardly rectifying K+ channel proteins GIRK1 and GIRK2 and their altered expression in weaver brain". The Journal of Neuroscience. 16 (22): 7137–7150. doi:10.1523/JNEUROSCI.16-22-07137.1996. PMC   6578936 . PMID   8929423.
• Signorini S, Liao YJ, Duncan SA, Jan LY, Stoffel M (1997). "Normal cerebellar development but susceptibility to seizures in mice lacking G protein-coupled, inwardly rectifying K+ channel GIRK2". Proceedings of the National Academy of Sciences of the United States of America. 94 (3): 923–927. Bibcode:1997PNAS...94..923S. doi: 10.1073/pnas.94.3.923 . PMC   19615 . PMID   9023358.
• Ohira M, Seki N, Nagase T, Suzuki E, Nomura N, Ohara O, et al. (1997). "Gene identification in 1.6-Mb region of the Down syndrome region on chromosome 21". Genome Research. 7 (1): 47–58. doi: 10.1101/gr.7.1.47 . PMID   9037601.
• Huang CL, Jan YN, Jan LY (1997). "Binding of the G protein betagamma subunit to multiple regions of G protein-gated inward-rectifying K+ channels". FEBS Letters. 405 (3): 291–298. Bibcode:1997FEBSL.405..291H. doi:10.1016/S0014-5793(97)00197-X. PMID   9108307. S2CID   44072628.
• Dahmane N, Ghezala GA, Gosset P, Chamoun Z, Dufresne-Zacharia MC, Lopes C, et al. (1998). "Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome". Genomics. 48 (1): 12–23. doi:10.1006/geno.1997.5146. PMID   9503011.
• Inanobe A, Horio Y, Fujita A, Tanemoto M, Hibino H, Inageda K, et al. (2000). "Molecular cloning and characterization of a novel splicing variant of the Kir3.2 subunit predominantly expressed in mouse testis". The Journal of Physiology. 521. Pt 1 (Pt 1): 19–30. doi:10.1111/j.1469-7793.1999.00019.x. PMC   2269641 . PMID   10562331.
• Hibino H, Inanobe A, Tanemoto M, Fujita A, Doi K, Kubo T, et al. (2000). "Anchoring proteins confer G protein sensitivity to an inward-rectifier K(+) channel through the GK domain". The EMBO Journal. 19 (1): 78–83. doi:10.1093/emboj/19.1.78. PMC   1171779 . PMID   10619846.
• Schoots O, Wilson JM, Ethier N, Bigras E, Hebert TE, Van Tol HH (2000). "Co-expression of human Kir3 subunits can yield channels with different functional properties". Cellular Signalling. 11 (12): 871–883. doi:10.1016/S0898-6568(99)00059-5. PMID   10659995.
• Jelacic TM, Kennedy ME, Wickman K, Clapham DE (2000). "Functional and biochemical evidence for G-protein-gated inwardly rectifying K+ (GIRK) channels composed of GIRK2 and GIRK3". Journal of Biological Chemistry. 275 (46): 36211–36216. doi: 10.1074/jbc.M007087200 . PMID   10956667.
• Chen L, Kawano T, Bajic S, Kaziro Y, Itoh H, Art JJ, et al. (2002). "A glutamate residue at the C terminus regulates activity of inward rectifier K+ channels: implication for Andersen's syndrome". Proceedings of the National Academy of Sciences of the United States of America. 99 (12): 8430–8435. Bibcode:2002PNAS...99.8430C. doi: 10.1073/pnas.122682899 . PMC   123084 . PMID   12034888.
• Lavine N, Ethier N, Oak JN, Pei L, Liu F, Trieu P, et al. (2003). "G protein-coupled receptors form stable complexes with inwardly rectifying potassium channels and adenylyl cyclase". Journal of Biological Chemistry. 277 (48): 46010–46019. doi: 10.1074/jbc.M205035200 . PMID   12297500.
• Ivanina T, Rishal I, Varon D, Mullner C, Frohnwieser-Steinecke B, Schreibmayer W, et al. (2003). "Mapping the Gbetagamma-binding sites in GIRK1 and GIRK2 subunits of the G protein-activated K+ channel". Journal of Biological Chemistry. 278 (31): 29174–29183. doi: 10.1074/jbc.M304518200 . PMID   12743112.

External links

• KCNJ6+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• Overview of all the structural information available in the PDB for UniProt : P48542 (Mouse G protein-activated inward rectifier potassium channel 2) at the PDBe-KB .

This article incorporates text from the United States National Library of Medicine, which is in the public domain.